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NM_001365536.1(SCN9A):c.798G>A (p.Leu266=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 29, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000444711.1

Allele description [Variation Report for NM_001365536.1(SCN9A):c.798G>A (p.Leu266=)]

NM_001365536.1(SCN9A):c.798G>A (p.Leu266=)

Gene:
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.798G>A (p.Leu266=)
HGVS:
  • NC_000002.12:g.166303193C>T
  • NG_012798.1:g.77795G>A
  • NM_001365536.1:c.798G>AMANE SELECT
  • NM_002977.4:c.798G>A
  • NP_001352465.1:p.Leu266=
  • NP_002968.1:p.Leu266=
  • NP_002968.1:p.Leu266=
  • NP_002968.2:p.Leu266=
  • LRG_369t1:c.798G>A
  • LRG_369:g.77795G>A
  • LRG_369p1:p.Leu266=
  • NC_000002.11:g.167159703C>T
  • NM_002977.2:c.798G>A
  • NM_002977.3:c.798G>A
Links:
dbSNP: rs200925482
NCBI 1000 Genomes Browser:
rs200925482
Molecular consequence:
  • NM_001365536.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002977.4:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000530314GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jul 29, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000530314.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024